ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.328A>T (p.Met110Leu) (rs1553431711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544269 SCV000629355 likely pathogenic Long QT syndrome 1 2017-04-17 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 110 of the CALM2 protein (p.Met110Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CALM2-related disease. This variant has been shown to arise de novo in an individual affected with a CALM2-related condition (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that arose de novo in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000624723 SCV000740876 uncertain significance Inborn genetic diseases 2015-05-11 criteria provided, single submitter clinical testing

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